C16orf96

C16orf96
Identifiers
Aliases	C16orf96, chromosome 16 open reading frame 96
External IDs	MGI: 1926059; HomoloGene: 53527; GeneCards: C16orf96; OMA:C16orf96 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	4,600,758 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	4,685,550 bp
RNA expression pattern
	Top expressed in
	testicle; ; left testis; ; right testis; ; prefrontal cortex; ; C1 segment; ; substantia nigra; ; ventricular zone; ; granulocyte; ; putamen; ; nucleus accumbens;
	Top expressed in
	zygote; ; spermatid; ; secondary oocyte; ; seminiferous tubule; ; primary oocyte; ; neural layer of retina; ; ascending aorta; ; spermatocyte; ; aortic valve; ; embryo;
	More reference expression data
	n/a
Orthologs
	342346
	78809
	ENSG00000205832
	ENSMUSG00000022518
	A6NNT2
	E9QMW4
	NM_001145011; NM_001387219
	NM_001252142; NM_030192
	NP_001138483
	NP_084468
	Wikidata
View/Edit Human	View/Edit Mouse

C16orf96, or chromosome 16 open reading frame 96, is a protein in humans that is encoded by C16orf96 that is found on the 16th chromosome.^[5] In Homo sapiens, the protein is 1141 amino acids in length^[6]

Protein

The structure of human C16orf96 protein with important regions labeled. The dark grey lines within the proline rich region and the domain of unknown function are nuclear import and export signals, respectively.

Characteristics

The molecular weight of the processed C16orf96 protein in humans is 125kdal with an isoelectric point of 6.58^[7] About 9% of the amino acid makeup of C16orf96 is proline, which is significantly higher than an average human gene.^[8]

Post Translational Modification

Human C16orf96 has a large amount of predicted phosphorylation sites on serines throughout the protein.^[9] C16orf96 also has been found in primates and mammals to have both a nuclear import and export signal^[10]

Domains

This gene contains some known domains, such as: an RNA recognition motif, a Merozoite surface protein (MSP-1), a pentapeptide repeat MXKDX, and a domain of unknown function (DUF1387). These domains could give a hint of what the function of this gene is.^[6]

Structure

Secondary Structure

The majority of the secondary structure of C16orf96 is alpa-helices with coils being the second most abundant structure.^[11]

Tertiary Structure

At this time there is no known tertiary structure for C16orf96.

Cellular Localization

The C16orf96 protein is predicted to be localized in the nucleus 82% of the time and 4.5% of the time in the cytosol and 4.5% of the time in the mitochondria.^[12]

Expression

Expression of C16orf96 when different hypoxia-inducible factors are reduced

C16orf96 expression is generally low in cells. in situ hybridization experiments suggest that C16orf96 RNA is only expressed in the testis while the EST profile for C16orf96 shows gene expression is low in testis and skin only.^[13]^[14] Expression of the C16orf96 gene is modulated by the depletion of both hypoxia induced factor 1/2α (HIF1/2α). When only one of the factors is depleted expression does not change suggesting that there is redundancy with these two HIF.^[15]

Homology

Strict orthologs of this gene exist only in mammals. However, a portion of DUF1387 is found in more distant species back to reptiles.^[16] No orthologs of this gene can be found in plants, fungi, or bacteria. Suggesting that this gene is relatively new and evolves quickly.

Function

The function of C16orf96 is currently unknown. Studies have cited this gene among many other genes as a possible candidate that has an effect on childhood obesity.^[17]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000205832 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022518 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, et al. (December 2004). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988–94. Bibcode:2004Natur.432..988M. doi:10.1038/nature03187. PMID 15616553.
^ ^a ^b NCBI Protein NP_001138483
^ GeneCards C16orf96
^ Biology Workbench: SAPS Tool^{[permanent dead link]}
^ NetPhos 2.0
^ NetNES 1.1
^ Biology Workbench: PELE Tool
^ "PSORT II Server". Archived from the original on 2021-07-09. Retrieved 2015-04-30.
^ The Human Protein Atlas of C16orf96
^ EST profile Hs.684212
^ GeoProfiles ID:40057343
^ NCBI BLAST
^ Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA, et al. (2012). "Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population". PLOS ONE. 7 (12): e51954. Bibcode:2012PLoSO...751954C. doi:10.1371/journal.pone.0051954. PMC 3522587. PMID 23251661.]

External links

Human C16orf96 genome location and C16orf96 gene details page in the UCSC Genome Browser.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000205832 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022518 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Martin_2004-5] Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, et al. (December 2004). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988–94. Bibcode:2004Natur.432..988M. doi:10.1038/nature03187. PMID 15616553.

[NCBI_Protein_NP_001138483-6] NCBI Protein NP_001138483

[7] GeneCards C16orf96

[8] Biology Workbench: SAPS Tool^{[permanent dead link]}

[9] NetPhos 2.0

[10] NetNES 1.1

[Biology_Workbench_SDSC-11] Biology Workbench: PELE Tool

[12] "PSORT II Server". Archived from the original on 2021-07-09. Retrieved 2015-04-30.

[13] The Human Protein Atlas of C16orf96

[14] EST profile Hs.684212

[15] GeoProfiles ID:40057343

[NCBI_BLAST-16] NCBI BLAST

[pmid23251661-17] Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA, et al. (2012). "Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population". PLOS ONE. 7 (12): e51954. Bibcode:2012PLoSO...751954C. doi:10.1371/journal.pone.0051954. PMC 3522587. PMID 23251661.]

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